hrp0097p2-250 | Late Breaking | ESPE2023

Update on the Etiological Diagnosis of Central Precocious Puberty in Both Sexes

Canton Ana , Claudia Latronico Ana , Montenegro Luciana , Piovesan Maiara , Faria Aline , Tinano Flavia , Pedrosa Ludmila , Seraphim Carlos , Mendonça Berenice , Brito Vinícius

Background: The etiological investigation of central precocious puberty (CPP) has improved with more precise clinical approach, neuroimaging, and genetic studies. CPP can be caused by congenital or acquired conditions, with or without central nervous system (CNS) lesions. More recently, genetic and epigenetic disorders have been identified in children with CPP, previously classified as idiopathic.Objective: To update the...

hrp0098p2-240 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Serum MKRN3 levels in girls with central precocious puberty due to MKRN3 loss-of-function mutation

Baracho Macena Larissa , Ribeiro Piovesan Maiara , Almeida Bastos Aline , Fernandes Pedrosa Ludmila , Ribeiro Montenegro Luciana , Pinheiro Machado Canton Ana , Pantaleiou Valassi Helena , Bilharinho Mendonca Berenice , Claudia Latronico Ana , Nahime Brito Vinicius

Background: MKRN3 is known to decline prior to pubertal development in healthy individuals, indicating a potential inhibitor effect on reproductive axis. Currently, MKRN3 loss-of-function mutations represent the main genetic cause of familial central precocious puberty (CPP) in both sexes. The impact of these mutations on MKRN3 serum levels is poorly understood.Aim: To assess serum MKRN3 levels in girls with CPP...